{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2068729572",
  "communityStandardTitle": [
    "NM_152269.5(MTRFR):c.-28-6771A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/11532322",
        "rs": 11532322
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 123246876,
          "referenceAllele": "A",
          "start": 123246875
        }
      ],
      "hgvs": [
        "NC_000012.12:g.123246876A=",
        "CM000674.2:g.123246876A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 123731423,
          "referenceAllele": "A",
          "start": 123731422
        }
      ],
      "hgvs": [
        "NC_000012.11:g.123731423A=",
        "CM000674.1:g.123731423A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 122297376,
          "referenceAllele": "A",
          "start": 122297375
        }
      ],
      "hgvs": [
        "NC_000012.10:g.122297376A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18580,
          "referenceAllele": "A",
          "start": 18579
        }
      ],
      "hgvs": [
        "NG_027517.1:g.18580A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003880"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000253233.6:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253233.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741588",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253233.6:c.-28-6771A="
          },
          "RefSeq": {
            "hgvs": "NM_152269.5:c.-28-6771A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253233.1:n.-28-6771A="
          },
          "RefSeq": {
            "hgvs": "NP_689482.1:n.-28-6771A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 479,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000366329.7:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390647.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 147,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 147,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000425637.3:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506680.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 255,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000536130.2:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443072.2:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759473"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000538888.6:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505059.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759578"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 83,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 83,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000546132.2:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441796.2:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000680325.1:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505277.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779943"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 616,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 616,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000253233.5:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000253233.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 444,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000366329.6:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000390647.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265817"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000425637.2:n.96-6771A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS288847"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 467,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000536130.1:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443072.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 95,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 95,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000538888.5:n.96-6771A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361550"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 255,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "ENST00000546132.1:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000441796.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365458"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 151,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 151,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "NM_001143905.2:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001137377.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 444,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 444,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "NM_001194995.1:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "NP_001181924.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016490"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 235,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 235,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "NM_152269.4:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "NP_689482.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 255,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "XM_005253630.3:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253687.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "endIntronDirection": "+",
          "endIntronOffset": 4165,
          "referenceAllele": "A",
          "start": 1012,
          "startIntronDirection": "+",
          "startIntronOffset": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "XM_011538980.1:c.-29+4165A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537282.1:n.-29+4165A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105934"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 286,
          "endIntronDirection": "+",
          "endIntronOffset": 3842,
          "referenceAllele": "A",
          "start": 286,
          "startIntronDirection": "+",
          "startIntronOffset": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "XM_011538982.1:c.-29+3842A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537284.1:n.-29+3842A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 255,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 255,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "XM_005253630.4:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "XP_005253687.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 900,
          "endIntronDirection": "+",
          "endIntronOffset": 4165,
          "referenceAllele": "A",
          "start": 900,
          "startIntronDirection": "+",
          "startIntronOffset": 4164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "XM_011538980.3:c.-29+4165A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011537282.1:n.-29+4165A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553501"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1223,
          "endIntronDirection": "+",
          "endIntronOffset": 3842,
          "referenceAllele": "A",
          "start": 1223,
          "startIntronDirection": "+",
          "startIntronOffset": 3841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "XM_024449273.1:c.-29+3842A="
      ],
      "proteinEffect": {
        "hgvs": "XP_024305041.1:n.-29+3842A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS582831"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 96,
          "endIntronDirection": "-",
          "endIntronOffset": 6770,
          "referenceAllele": "A",
          "start": 96,
          "startIntronDirection": "-",
          "startIntronOffset": 6771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026784",
      "geneNCBI_id": 91574,
      "geneSymbol": "MTRFR",
      "hgvs": [
        "NM_152269.5:c.-28-6771A="
      ],
      "proteinEffect": {
        "hgvs": "NP_689482.1:n.-28-6771A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700132",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000253233.6:c.-28-6771A="
          },
          "RefSeq": {
            "hgvs": "NM_152269.5:c.-28-6771A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000253233.1:n.-28-6771A="
          },
          "RefSeq": {
            "hgvs": "NP_689482.1:n.-28-6771A="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}